UK to use whole genome sequencing to detect rare diseases in newborns

Whole genome sequencing will be used to detect rare genetic conditions in 100,000 newborns in a pilot study run by Genomics England and the NHS.

The biggest study of its kind, which will start in 2023 and will run over two years, aims to test whether sequencing whole genomes at birth can help to diagnose rare genetic diseases earlier. Other goals of the project include understanding cost-effectiveness of early detection and treatment of rare conditions, how genomic and health data could be used for research and exploring the potential risks and benefits of storing an individual's genomic data over their lifetime.

'One challenging thing with newborn genomes is that they will potentially accompany people from cradle to grave,' Sarah Norcross, director of the Progress Educational Trust (PET) told the Guardian. 'People must be able to trust that any data collected will only be used in the agreed way, and for the stated purpose'.

Each year, approximately 3000 babies are born in the UK with rare, but treatable, genetic conditions. Often, these are only diagnosed years later, when the disease has already progressed, and symptoms have developed. Currently, newborns are offered a heel-prick test after birth, which analyses a small blood sample to identify nine serious conditions, including sickle-cell disease and cystic fibrosis. The new test to be studied will only look at conditions that appear in early childhood and include more than 200 genetic disorders, all of which are treatable.

Dr Richard Scott, chief medical officer at Genomics England, said: 'At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this programme is responding to is: "is there a way that we can get ahead of this?"'

The sequencing results will be anonymised and stored on their health record with the potential of being used in the future, when the children reach adulthood, when there is the potential they may develop other diseases with a genetic component, such as cancer. Their genetic information might then provide valuable insights for treatment decisions. Research by PET earlier this year revealed that 51 percent of the UK public support the storage of genetic data in a national database, provided it were only accessible by the sequenced individual and healthcare professionals involved in the individual's care (see BioNews 1148).

'Using whole genome sequencing to screen newborn babies is a step into the unknown. Getting the balance of benefit and harm right will be crucial,' said Professor Frances Flinter, emeritus professor of clinical genetics at Guy's and St Thomas' NHS Foundation Trust, and member of the Nuffield Council on Bioethics. 'The potential benefits are early diagnosis and treatment for more babies with genetic conditions. The potential harms are false or uncertain results, unnecessary anxiety for parents, and a lack of good follow-up care for babies with a positive screening result. We must not race to use this technology before both the science and ethics are ready. This research programme could provide new and important evidence on both.'